1. National Healthcare Science Week 2017
What does genomics mean for scientists?
Monday 13 March 2017
Dr Thalia Antoniadi
Consultant Clinical Scientist
West Midlands Regional Genetics Laboratory

5. Exciting times! What is the cause of the patient’s symptoms?
Is ‘this’ the cause of the patient’s symptoms?
Healthcare scientists are involved in 80% of all clinical decisions in the NHS
Genomes bring new challenges and new roles for the scientists

6. 362 families tested with WES
188 (52%) received a definite molecular diagnosis
in a gene known to cause a similar disease or
in a gene not previously associated with the family’s disease

7. Solving the unsolved the ‘genomics’ approach filling the gap
unbiased and flexible approach not depending on limited prior knowledge
genetic heterogeneity
atypical presentation
newly discovered genes
extreme rare conditions

8. classification clinical validity clinical utility
is this variant causative?
is this gene associated with the
disease?
is this information actionable?
clinical validity
clinical utility

9. [whole genome diagnosis]
1800 -
1200 -
600 -

11. The evolving role of scientists
Adopting new technologies
Analysis of data
Interpretation of sequence variants
Multidisciplinary meetings
Provide the scientific evidence to support the clinical decision making
Collaborations

12. 100,000 Genomes project
rare disease and cancer
ground breaking resource: combine genomic data with medical records
enabling the identification of causes, diagnosis and treatment investigation